Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A series of 17 cases of gallstones in children observed over a period of 10 years in the area of Marseilles is described and the literature reviewed. The majority of children were girls over 10 years old. Symptoms were constantly present and the disease revealed nine times by acute "mechanical" cholecystitis, compared to 16 infectious cholecystitis followed during the same period, three times by an accident of migration (cholangitis in a 14 years old girl, bile ascitis in two infants). A cholecystography should be performed in acute recurrent abdominal pain of unknown origin in children, gallstones appearing to be radiotransparent in six patients. Among causes of gallstone formation, the authors dig out only 6 hemolytic anemias, related to hemoglobinopathies in three patients, and they emphasize the frequency of idiopathic cholelithiasis which should lead to a more complete investigation of the enterohepatic cycle and chemical constitution of bile in such patients.
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PMID:[A clinical survey on 17 cases of cholelithiasis in childhood (author's transl)]. 22 Jul 27

Sickle hemoglobinopathies include sickle cell disease, sickle-C disease, and sickle-beta thalassemia. Patients with these disorders commonly suffer a multitude of destructive events to vital organs, especially to the central nervous system, the spleen, the kidney, the lung, and the heart as a result of microvascular plugging by the sickled erythrocytes. Thoughtful preparation for anesthesia and operation, especially when directed by experienced individuals, can greatly reduce the hazard of inducing the sickle crises that formerly plagued individuals with sickle hemoglobinopathies who faced major operations under general anesthesia. The patient must be free of any acute illness, especially one involving the respiratory system. Adequate hydration preoperatively combined with avoiding perioperative hypoxia, hypothermia, and acidosis, the triggers for sickling, will go far toward avoiding sickle-induced complications. Modern transfusion therapy, consisting of multiple small transfusions of Hb A erythrocytes administered over several weeks prior to the operation, not only corrects the chronic anemia but suppresses erythropoiesis of cells containing Hb S in the patient's bone marrow and leaves him or her with a majority of cells containing Hb A. This provides a safety net in case a sickle-inducing insult occurs despite the best efforts to avoid one. Individuals with sickle hemoglobinopathies may require any of the operations common to all children, for example, herniorrhaphy, appendectomy, tonsillectomy, and circumcision, but a significant number will develop calcium bilirubinate cholelithiasis and possibly cholecystitis as a result of the continual increased load of bile salts resulting from the shortened lifespan of the cells containing Hb S. Also, although most individuals with Hb S will gradually suffer splenic infarction by late childhood, a significant number of infants will experience acute splenic sequestration crisis, a life-threatening entity, the recurrence of which is prevented by splenectomy. Several publications have demonstrated that such surgical procedures can be performed in large numbers of patients with sickle hemoglobinopathies without deaths and with minimal morbidity.
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PMID:Surgical management of children with hemoglobinopathies. 144 Jan 54